Canonical Allele Identifier: CA2499217579

Gene: RAD50

Linked Data

• ClinVar Variation Id: 1072375
• ClinVar RCV Id: RCV001385065
• dbSNP Id: rs2149843695
• gnomAD v4: 5-132594917-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132594918del , CM000667.2:g.132594918del	GRCh38
NC_000005.9:g.131930610del , CM000667.1:g.131930610del	GRCh37
NC_000005.8:g.131958509del	NCBI36
NG_021151.1:g.42995del
NG_021151.2:g.42942del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1843del MANE Select	ENSP00000368100.4:p.Leu615Ter
ENST00000638452.2:c.1546del	ENSP00000492349.2:p.Leu516Ter
ENST00000638504.1:n.1480-186del
ENST00000638568.2:c.1546del	ENSP00000491158.2:p.Leu516Ter
ENST00000639899.1:n.2362del
ENST00000640655.2:c.1546del	ENSP00000491596.2:p.Leu516Ter
ENST00000651160.1:c.*16-186del	ENSP00000498829.1:n.*16-186del
ENST00000651658.1:n.2386del
ENST00000651723.1:c.*1926del	ENSP00000498237.1:n.*1926del
ENST00000652016.1:c.*89-186del	ENSP00000498267.1:n.*89-186del
ENST00000652485.1:c.1876del	ENSP00000498973.1:p.Leu626Ter
ENST00000378823.7:c.1843del	ENSP00000368100.4:p.Leu615Ter
ENST00000423956.5:c.*29del	ENSP00000390971.1:n.*29del
ENST00000453394.5:c.1660del	ENSP00000400049.1:p.Leu554Ter
ENST00000533482.5:c.*1469del	ENSP00000431225.1:n.*1469del
NM_005732.3:c.1843del	NP_005723.2:p.Leu615Ter
NM_005732.4:c.1843del MANE Select	NP_005723.2:p.Leu615Ter